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MethBat outliers, Mimvir/Gicam scores, long reads seq. badges and more

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@northwestwitch northwestwitch released this 25 Feb 13:36
· 142 commits to main since this release
5aa1047

[4.108]

Added

  • Gene-overlapping variants shown also for STRs (#5977)
  • Case and variant-specific information on ACMG page and PDF export (#5978)
  • Allow bypassing the confirmation prompt for the delete rna command via a new --yes option (#5982)
  • Parse phasing information and store on genotype call (#5988)
  • Link to GTEx for gene, from gene and variant pages (#5995)
  • Parse STRdrop details where available (#5991)
  • Incomplete penetrance badge, according to HPO (#6008)
  • Support for additional variant scoring systems: MivmirScore, GicamScore (#5970)
  • Parse and display MivmirExplanation key/values on variant page, when available (#6011)
  • Display inheritance models on structural variantS pages (#6015)
  • Analysis types wgs-lr and panel-lr (#6029)
  • Option to specify database name for the loqusdb API in the scout config file (#6028)
  • Allowing filtering cases by type of analysis (advanced options) (#6045)
  • Methylation outliers from LRS MethBat from Nallo as omics variants (#5993)
  • An ACMG sandbox link included in the main dropdown, pointing to a blank classification page to be used to test the algorithm (#5983)

Changed

  • Institutes are now ordered alphabetically by display name on gene panels search (#5965)
  • Display all available individual/sample IDs for a case (display_name, individual_id and subject_id) directly on cases page (#5966)
  • Revert search of genes in panels. Now search is NOT limited to user's institutes panels any more (#5974)
  • Name for Gens buttons: CN profile to Gens(#5985)
  • On variants filters form, sort gene panels alphabetically and mark panels that don't belong to the case's clinical panels with asterisk (#5981)
  • External links at the bottom of variant page are now ordered alphabetically (#6024)
  • Mivmir score explanations sorted by descending value, from the biggest contributor to the smallest (#6058)
  • The ACMG classification documentation now more clearly explains about modifications not in Richards et al (#6065)

Fixed

  • Do not try to save an ACMG classification when user provided no criteria (#4962)
  • When dismissing variants from variantS page, reloaded page remembers variant selection position (#5969)
  • Smaller PDFs exported from ACMG classification page (#5976 and #6054)
  • When adding a germline variant to a ClinVar submission, make sure it ends up in a germline submission (#5990)
  • Invalid scroll_pos handling in variants view (#5999 and #6022)
  • Native type hint of iterable with subtype not compatible with python 3.11 (#6007)
  • Error in parsing reduced penetrance from HPO genes to phenotypes (#6004)
  • Top left SNVs button on omics outliers page (#6001)
  • Omics variants RNA sashimi button locus generation does not follow RNA genome build (#6002)
  • HGVSp display encoding on gene-variants (SNV and SVs) page (#6018)
  • RefSeq transcripts panel on variant page, which was missing RefSeq ID and links for some transcripts (#6027, #6031)
  • Phenotype_terms empty crash on case page (#6034)
  • Updated supercharge/mongodb-github-action to v1 (1.12.1) in order to fix automatic tests failing with "client too old → daemon too new" error before even starting (#6043,#6044)
  • On Local Observations panels, set number of homozygous observations to 0 and not N/A if Nr obs. is 0 (#6038)
  • Color case LR badges (#6050)
  • Make sorting of gene panels containing a gene case-insensitive (#6052 and #6056)
  • Make sorting of institutes case-insensitive on new user form, dashboard and institute settings (#6061, #6062)
  • Cases page crashing due to missing analysis date when a case is loaded using VCF + ped file (#6067)
  • Add user dropdown selects visible in dark mode (#6068)
  • Fixed links to Ensembl and NCBI transcripts from main Transcripts and Protein panel on variant page (#6041)
  • Methbat methylation Uncategorized icon display (#6074)
  • General report page timeout when case has dozens of dismissed variants - show only the first 15 (#6035)
  • Fixed displaying dismissed MEIs and cancer SVs on general case report (#6077)